Conservative management of hand impairment in children and adolescents with heritable disorders of connective tissue: A scoping review.

AIMS: To synthesize and critically appraise available interventions in the conservative management of hand impairment for children and adolescents with heritable disorders of connective tissue (HDCT). METHODS: A search of peer-reviewed literature and online platforms were included with data regarding hand impairment and function, conservative management and outcome measures extracted and appraised. Levels of evidence were applied to published literature. RESULTS: Ten peer-reviewed papers, eleven webpages and YouTube videos met the inclusion criteria. Reported interventions included: strengthening, orthoses, assistive equipment, education and pacing. Evidence of intervention effectiveness and evidence-based guidance on dosage were absent, with no consistency of outcome measures monitoring intervention effectiveness. Online platforms posted by health professionals predominantly provided advice for families without clinical detail of interventions. CONCLUSIONS: There is a consistent suite of interventions identified in both peer-reviewed literature and online platforms used by clinicians and families to manage hand impairment for children and adolescents with HDCT. Clear dosage parameters and outcome measures are needed in future intervention studies to determine the effectiveness of interventions and guide clinicians in how best to treat hand impairment. Increasing accountability and quality of online resources posted by health professionals for families is warranted to ensure dosage details and precautions are provided.

Australian guidelines for the management of children with achondroplasia.

Achondroplasia is the most common form of skeletal dysplasia. In addition to altered growth, children and young people with achondroplasia may experience medical complications, develop and function differently to others and require psychosocial support. International, European and American consensus guidelines have been developed for the management of achondroplasia. The Australian focused guidelines presented here are designed to complement those existing guidelines. They aim to provide core care recommendations for families and clinicians, consolidate key resources for the management of children with achondroplasia, facilitate communication between specialist, local teams and families and support delivery of high-quality care regardless of setting and geographical location. The guidelines include a series of consensus statements, developed using a modified Delphi process. These statements are supported by the best available evidence assessed using the National Health and Medicine Research Council's criteria for Level of Evidence and their Grading of Recommendations Assessment, Development and Evaluation (GRADE). Additionally, age specific guides are presented that focus on the key domains of growth, medical, development, psychosocial and community. The guidelines are intended for use by health professionals and children and young people with achondroplasia and their families living in Australia.

Hand Impairment and Function in Children and Adolescents With Heritable Disorders of Connective Tissue.

IMPORTANCE: Heritable disorders of connective tissue (HDCTs) affect hand function and participation in daily activities for children and adolescents. OBJECTIVE: To describe hand impairment and function and determine the extent to which hand impairment and function explain the variation in self-reported functional performance. DESIGN: Cross-sectional observational study. SETTING: Specialist tertiary hospital. PARTICIPANTS: Children and adolescents ages 8-18 yr with HDCTs (N = 73). INTERVENTION: None. OUTCOMES AND MEASURES: Hand function outcomes included grip strength (digital dynamometer), manipulation and dexterity (Functional Dexterity Test, Nine-Hole Peg Test), and fine motor skills (Bruininks-Oseretsky Test of Motor Proficiency). Upper limb hypermobility was assessed using the Upper Limb Hypermobility Assessment Tool. Hand pain and fatigue were recorded for a timed button test and 3- and 9-min handwriting tasks. Functional performance was measured using the Childhood Health Assessment Questionnaire. RESULTS: Scores on all hand function measures were below expected norms. Pain and fatigue were significantly worse after the writing tasks (p < .001) but not the button test (p > .40). Secondary students had significantly lower handwriting scores than primary students (p = .03) but similar grip strength z scores (p = .95). Variation in self-reported functional performance was explained by grip strength (6%) and upper limb hypermobility and dexterity (16%). CONCLUSIONS AND RELEVANCE: Young people with HDCTs have poor hand function attributable to poor grip strength and hand pain and fatigue. Comprehensive upper limb evaluation and ongoing monitoring throughout the school years are warranted to inform timely intervention. What This Article Adds: Children and adolescents with heritable disorders of connective tissue have difficulty with hand function that affect their participation in daily activities. The results of this study can help clinicians identify, assess, and monitor daily activities, performance skills, and symptoms of children and adolescents with HDCTs to promote their participation in all aspects of daily life.

Impact of heritable disorders of connective tissue on daily life of children: Parent perspectives.

AIM: The aim of this study was to investigate parent perspectives on how heritable disorders of connective tissue (HDCT) affect a child's everyday life. In addition, this study aimed to determine if parents seeking health professional services perceive their children with HDCT to have difficulties with activities reliant on hand function. METHODS: This cross-sectional study used a questionnaire for parents to explore the impact of an HDCT on a child's ability to carry out everyday activities. Parents of children (8-18 years) attending a tertiary connective tissue dysplasia clinic, over a 12-month period, were invited to participate. RESULTS: We analysed 100 surveys completed by parents. Children with Ehlers-Danlos syndrome-hypermobile type, joint hypermobility syndrome (48%) and osteogenesis imperfecta (42%) were the largest diagnostic groups represented. Pain (73%) and fatigue (68%) were the most common symptoms parents perceived to affect day-to-day activities. More parents were satisfied with their child's self-care (61%) than school participation (33%). Keeping up with handwriting (71%) and gross motor activities (70%) were the most frequently reported difficulties at school. Most parents (65%) reported leisure activity difficulties, with pain (64%) and fatigue (60%) as the main contributing factors. CONCLUSIONS: This study has provided new knowledge about the concerns of parents with their child's engagement in everyday life including the impact of HDCT on hand function. Further research is needed on effective management strategies to reduce symptoms and improve hand function for these children.

Joint hypermobility syndrome: a review for clinicians.

The term 'joint hypermobility' describes synovial joints that move beyond a normal range of motion. 'Joint hypermobilty syndrome' may also be associated with significant symptoms and impaired quality of life. The purpose of this review is to help the generalist to recognise the condition, exclude significant alternative diagnoses and understand the multidisciplinary approach to management.

Effects of neoprene wrist/hand splints on handwriting for students with joint hypermobility syndrome: a single system design study.

PURPOSE: Pain associated with hypermobility of wrist and hand joints can contribute to decreased handwriting output. This study examined the effectiveness of a neoprene wrist/hand splint in reducing pain and increasing handwriting speed and endurance for students with joint hypermobility syndrome. METHODS: Multiple baseline, single system design (SSD) methodology was used. Four ninth grade students with handwriting difficulties because of joint hypermobility syndrome participated in this study. RESULTS: Visual and statistical (two standard deviation band method) analyses indicated a significant decrease in handwriting speed when using the splint for three out of four participants. No significant change in pain or endurance was noted during intervention. There was a significant decrease in pain following withdrawal of the splint for three participants. CONCLUSION: Evidence from this study does not support use of this particular splint for decreasing pain and increasing handwriting speed and endurance for ninth grade students with joint hypermobility syndrome.

Paediatric inflammatory bowel disease in New Zealand.

AIM: To determine the incidence, presentation, and initial management of paediatric inflammatory bowel disease in New Zealand. METHODS: A prospective study in collaboration with the New Zealand Paediatric Surveillance Unit was undertaken between 2002-2003. Paediatricians and healthcare professionals working with children were surveyed monthly for cases of paediatric inflammatory bowel disease. RESULTS: There were 52 cases(30 males); 34 (66%) Crohn's disease, 9 (17%) ulcerative colitis, and 9 (17%) inflammatory bowel disease type unclassified. The estimated incidence of paediatric inflammatory bowel disease, Crohn's disease, and ulcerative colitis were 2.9, 1.9, and 0.5 per 100,000 per year respectively. Mean age at diagnosis was 11 years with a delay of 8.4 months from clinical presentation to diagnosis. 85% were European, while no Maori or Pacific Islanders had Crohn's disease or ulcerative colitis. The most common symptoms at presentation were abdominal pain (63%), rectal bleeding (57%), diarrhoea (55%), and weight loss (43%). 39% of Crohn's disease patients had perianal disease at presentation. Only 18% of the Crohn's disease patients presented with the classic triad of symptoms-abdominal pain, weight loss, and diarrhoea. Haematological laboratory abnormalities were more common in Crohn's disease. 5-aminosalicylic acid agents were the most common initial therapy followed by systemic steroids. 25% of the paediatric inflammatory bowel disease cohort received immunomodulators. CONCLUSIONS: The incidence of paediatric inflammatory bowel disease in New Zealand is comparable but at the lower end relative to North America and United Kingdom. There is more Crohn's disease than ulcerative colitis and only a minority of Crohn's disease patients presented with the classic triad of abdominal pain, weight loss, and diarrhoea. 5-aminosalicylic acid preparations and steroids as first line treatment of Crohn's disease were much more common than nutritional therapy. It is rare for New Zealand Polynesian children to develop paediatric inflammatory bowel disease.

Paediatric liver transplantation in New Zealand: the first 5 years.

AIM: To report the first 5 years of paediatric liver transplantation (LTx) undertaken by the New Zealand Liver Transplant Unit. METHODS: The records of all patients aged 0 to 15 years assessed for LTx between 1 January 2002 and 1 November 2006 were examined. Demographics, criteria for listing, waiting time, transplant-hospitalisation details, and outcome to date are reported. RESULTS: Thirty-eight children were assessed for LTx, of whom 33 were listed. One improved and was de-listed, 3 died on the waiting-list, and 1 remains on the list currently. Twenty-eight children have undergone 29 transplants; there were 25 primary and 4 re-transplants (3 had their primary transplant in Australia). The median wait-time was 122 days and median age at transplantation was 2 years 6 months. Fourteen (50%) were European, 10 (36%) Maori, 3 (11%) Pacific (mostly of Samoan, Tongan, Niuean, or Cook Islands origin), and 1 (3%) Asian. The most common diagnosis was extra-hepatic biliary atresia (59%) followed by alpha-1 antitrypsin deficiency and acute liver failure (14% each). There were 6 whole liver grafts and 23 partial liver grafts including 7 live donor and 10 split LTx. Median time in the Paediatric Intensive Care Unit (PICU) was 2 days and median hospital stay after LTx was 25 days. Time spent in Auckland immediately pre- and post-transplant for families from outside the region was a median of 14 weeks. Postoperative morbidity includes biliary leaks or strictures in 10 (36%), vascular thromboses in 7 (24%), and culture positive bacterial infection in 14 (50%). Twelve (43%) experienced one or more episodes of acute rejection, 3 developed chronic rejection, and post-transplant lymphoproliferative disorder (PTLD) occurred in 2 patients. Despite these problems, graft survival is 97% and patient survival is currently 100%. All patients of school age are currently attending school. CONCLUSION: Liver transplantation is now established in New Zealand as the treatment of choice for end-stage liver disease and acute liver failure in the paediatric population. Excellent outcomes that compare well with large overseas centres have been achieved.

Pulse intravenous methylprednisolone for resistant allergic bronchopulmonary aspergillosis in cystic fibrosis.

Allergic bronchopulmonary aspergillosis (ABPA) results from a hypersensitivity response to Aspergillus fumigatus. It is seen in a number of chronic respiratory conditions, particularly in association with cystic fibrosis (CF). Oral corticosteroids and itraconazole represent the mainstay of treatment. There is evidence for the use of pulse methylprednisolone in other respiratory conditions as well as a number of inflammatory conditions. This is the first reported use of pulse intravenous methylprednisolone in the treatment of ABPA in CF. We present the clinical course of four children with CF and severe ABPA, in whom pulse methyprednisolone was used to manage the disease because of relapses or marked side effects on high-dose oral corticosteroids. Methylprednisolone pulses achieved disease control in 3 of the 4 children. However, troublesome side effects were experienced, in some cases necessitating discontinuation of therapy. Pulse methylprednisolone may represent a treatment option for children with CF and ABPA, where ABPA fails to respond adequately to routine therapy.

Coeliac disease diagnosed at Starship Children's Hospital: 1999-2002.

AIM: To retrospectively review the clinical presentation and serological testing of children diagnosed with coeliac disease at Starship Children's Hospital (Auckland, New Zealand) over a 4-year period between January 1999 and December 2002. METHODS: A review of Starship Hospital medical records of all children diagnosed with coeliac disease by small bowel biopsy between January 1999 and December 2002 was conducted. Patients had anti-gliadin, endomysial, and tissue transglutaminase antibodies performed prior to small bowel biopsy. RESULTS: There were 48 patients, median age of 6.9 years (range 1.6 to 15.7 years). Comparing symptomatic age groups older and younger than 5 years, the former age group presented significantly more often with abdominal pain (p=0.005) and the latter age group presented significantly more often with failure to thrive (p=0.02). Screening at-risk groups yielded nine children (19%) with asymptomatic disease. Thirty-three of 36 (92%) patients tested positive for the anti-endomysial IgA antibody, and 26 of 27 (96%) patients tested positive with the anti-tissue transglutaminase IgA antibody. Three patients (aged 3, 4, and 6 years of age) were negative for anti-endomysial antibodies (including one also negative for anti-tissue transglutaminase antibody), but all three were positive for anti-gliadin antibody. CONCLUSIONS: Our study found that children with coeliac disease are being diagnosed at an older age. Older children also presented with more abdominal pain while younger children presented with more failure to thrive. At-risk groups for coeliac disease may be asymptomatic and form a significant group of patients diagnosed with coeliac disease. Anti-endomysial and tissue transglutaminase antibodies are reliable tests for coeliac disease. However, in younger patients or if there is a high clinical index of suspicion of coeliac disease, small bowel biopsy should be performed even if the anti-endomysial and tissue transglutaminase antibody tests are negative.

Cystic Fibrosis and Burkholderia pseudomallei Infection: An Emerging Problem?

We recently managed 4 patients with cystic fibrosis who had acquired Burkholderia pseudomallei infection after exposure in a region of endemicity. Person-to-person transmission between 2 siblings may have occurred; otherwise, the evidence suggests that cystic fibrosis may increase the likelihood of infection with this organism, and patients should be warned of this possibility and cautioned to avoid high-risk activities.

Auckland paediatric liver transplant experience 1990-2000.

AIMS: New Zealand is establishing its own Paediatric Liver Transplant Service. However there have been no readily available data on the experience of New Zealand paediatric transplant recipients to date. The aim of our study was to determine numbers and indications for transplant at present, current outcomes and to estimate the likely demand for the service in the future. METHODS: A retrospective search of computerised records was performed on children cared for at Starship Hospital from 1990 to 2000. RESULTS: Seventeen children received eighteen transplants. The indication for transplantation was biliary atresia in the majority of patients (11/17, 65%). A higher proportion of Maori and Pacific Island children received transplants than would be expected from their proportion in the population (59 vs 29%, p<0.01). Significant and often multiple complications occurred post transplantation in the majority of children, but overall outcomes were good. CONCLUSIONS: A New Zealand Paediatric Liver Transplant Program is likely to perform about six transplants per year.